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See the complete list of topics.

Deletion Positive | Dental Work | Diagnosis | Diapers | Discipline | Drinking Straws | Drooling


Deletion Positive

Deletion 15q11.2-q13 (68% of cases) – The majority of AS cases are caused by deletions on the maternal copy of Chromosome 15. Due to genomic imprinting, typically only the maternal copy of UBE3A is expressed in the brain. The deletion thus removes the normal expression of this gene in AS individuals. The larger deletion has been termed the Class I deletion, and the smaller has been called Class II deletions.  Class III deletions are those that are atypical and often are larger than even the class I deletions.  There is less than 1% recurrence risk. 

http://www.ncbi.nlm.nih.gov/books/NBK1144/  Aditi I Dagli, MD, Jennifer Mueller, MS, CGC, and Charles A Williams, MD.


Chromosome 15 Deletion   


Angelman Family Contribution

My 2 year old son is deletion positive! Brantley has his own strengths! He’s his own individual. Don’t dwell on everything online tells us. These kids can amaze us with all the challenges and hurdles they face! Just take it one day at a time!
Sarah, j.sorrels09@blueriver.net, angel Brantley, age 2, Del+

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Dental Work 

Angelman Family Contributions

At age 32, our UPD angel needed to have her wisdom teeth removed. This was done as an outpatient surgical procedure at the hospital while under general anesthesia. It was helpful that she was given anti-anxiety medication by the anesthesiologist while in pre-op. The oral surgeon used extra self-absorbing stitches and “glue”. (I was so concerned about her putting her fingers in her mouth post-surgery, or going into gag mode but that didn’t happen). Due to her diagnosis, I was allowed to be in the post-op room as she was waking up and followed her into the recovery room as well. When home, she slept A LOT and ate very little. Jell-O went down okay. It took a day or two to tolerate mashed potatoes. Not to use a straw to drink. The prescribed pain medication tablets were too hard for her to swallow and she did better with Tylenol ES in gel caps form. We used bags of frozen peas or baggies of ice in winter weight socks to place on her jaw (which she surprisingly enjoyed). She experienced swelling of her lips which we were told was a normal post-surgical possibility. And she did bite her lips while they were numb which didn’t help the situation. There was one prolonged episode of vomiting as well from swallowing blood. Carmex lip balm was soothing. Overall, she did well. It took 7-10 days until she was back to herself again. I think it was also helpful that she likes watching medical things on YouTube and was viewing shows about what happens at the hospital. 
Kathy, angel Julienne, age 33, UPD

I think it is extremely important that you start young (around 2) with a good pediatric dentist. Our insurance covered check up every six months and we paid for extra ones to make a total of 4 visits per year. By going frequently you can establish a relationship with the provider and staff. At 37 my daughter still goes to the office she started with at 2 though the staff and dentist have changed. She knows the place and the routine and they know her. 
AS Family Member

At the dental office we help the dentist along with two other people in order to do the work.
Brisia, angel Mario

Our daughter had her wisdom teeth removed at age 20. General anesthesia was used. The surgeon used extra stitches to prevent bleeding, and he also used a local anesthesia to numb the area in an effort to improve the immediate post-surgery period of time. An added bonus of the numbness was we heard her say, “Ma Ma”!  🙂  The surgeon recommended one dose of Tylenol and one dose of Ibuprofen for pain.  The process went much better than we expected!  ***Also, at age 38, she is still seeing the same pediatric dentist every six months for cleaning. A dental papoose board is used. She doesn’t love it, but she is all smiles afterwards when we clap and cheer! 
Alice, sandiegoasfwalk@gmail.com, angel Whitney, age 38, Del +

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A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly. For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis. Use this link to Gene Reviews for more information and testing protocols. http://www.ncbi.nlm.nih.gov/books/NBK1144/

If you have recently received an Angelman syndrome diagnosis, see the Newly Diagnosed page for next steps. 

Diagnostic Criteria for Angelman syndrome 

Findings typically present in individuals with Angelman Syndrome:

  • Normal prenatal and birth history, normal head circumference at birth, no major birth defects
  • Normal metabolic, hematologic, and chemical laboratory profiles
  • Structurally normal brain by MRI or CT, although mild cortical atrophy or dysmyelination may be observed
  • Delayed attainment of developmental milestones without loss of skills
  • Evidence of developmental delay by age six to 12 months, eventually classified as severe
  • Speech impairment, with minimal to no use of words; receptive language skills and nonverbal communication skills higher than expressive language skills
  • Movement or balance disorder, usually ataxia of gait and/or tremulous movement of the limbs
  • Behavioral uniqueness, including any combination of frequent laughter/smiling; apparent happy demeanor; excitability, often with hand-flapping movements; hypermotoric behavior; short attention span

Findings in more than 80% of affected individuals

  • Delayed or disproportionately slow growth in head circumference, usually resulting in absolute or relative microcephaly by age two years
  • Seizures, usually starting before age three years
  • Abnormal EEG, with a characteristic pattern of large-amplitude slow-spike waves

Findings in fewer than 80% of affected individuals

  • Flat occiput
  • Occipital groove
  • Protruding tongue
  • Tongue thrusting; suck/swallowing disorders
  • Feeding problems and/or muscle hypotonia during infancy
  • Prognathia
  • Wide mouth, wide-spaced teeth
  • Frequent drooling
  • Excessive chewing/mouthing behaviors
  • Strabismus
  • Hypopigmented skin, light hair and eye color (compared to family); seen only in those with a deletion
  • Hyperactive lower-extremity deep-tendon reflexes
  • Uplifted, flexed arm position especially during ambulation
  • Wide-based gait with out-going (i.e., pronated or valgus-positioned) ankles
  • Increased sensitivity to heat
  • Abnormal sleep-wake cycles and diminished need for sleep
  • Attraction to/fascination with water; fascination with crinkly items such as certain papers and plastics
  • Abnormal food-related behaviors
  • Obesity (in the older child; more common in those who do not have a deletion)
  • Scoliosis
  • Constipation

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SOSecure Containment Swim Brief  Made by Discovery Trekking Outfitters. An effective and discreet unisex swimming undergarment for adults and teens.

Applying Structured Teaching Principles to Toilet Training  How to create structure and routine to toilet training for a child with Autism – an article by Susan Boswell and Debbie Gray through the University of North Carolina TEACCH® Autism Program.

Angelman Family Contributions

We like Abena Abri Flex diapers. They are available for purchase on Amazon. They are pretty thick and absorbent and are very easy to put on and take off. 
Myriah, angel Madeline, age 12, Mutation

Use a diaper doubler inside their diaper at night to help with leakage.
AS Family Member

Tranquility and Tena diapers for children and adults 100 lbs. and more.  Many add extra pads.
AS Family Member

Home Delivery Incontinent Supplies (HDIS) is excellent to use (1-800-269-4663) HDIS.com
Pam and Warren, wpnew@windstream.net, angels Jonathan and Andrea, ages 40 and 35, UBE3A Mutation

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Angelman Family Contributions: Discipline

My 2 year old Brantley deletion positive knows what the word NO means. I tell him if he’s pulling my hair or such “NO” and he shakes his head NO and laughs. I’m pretty sure these kids know more than we think! 
Sarah, j.sorrels09@blueriver.net, angel Brantley, age 2, Del+

We use positive reinforcement to promote appropriate behaviors. Punishment techniques have never worked with our son.
AS Family Member

Keep in mind that much of the “negative behaviors” are the result of anxiety, frustration, lack of sleep, illness, etc. Certainly, our angels suffer “fight or flight” at times and this can be traumatic for all. The harder, but more effective strategy, is to whisper reassurance, let them know that everything will soon be OK and that you are there. Patience is the key- even in public when things might become embarrassing.  (Most people will be sympathetic.) Remember…“This too will pass.”  It will take a while- and longer than you want for your child to calm down. He/she might lash out at loved ones with slapping or hitting. Do not take it personally! It is often beyond their control. As much as we try, we cannot imagine what it is like to have Angelman syndrome. NOT resorting to physical discipline or screaming will, in the long run, be more effective and will help you as a parent feel better about yourself. As Dr. Phil says, “Children need a safe place to land” and you can create that by using comfort rather than anger.
Alice, sandiegoasfwalk@gmail.com, angel Whitney, age 38, Del+ Class 1

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Drinking Straws

Angelman Family Contributions: Drinking/Straws

Practice drinking from a straw using box drinks with a straw that the liquid can be gently squeezed up the straw working on them trying to suck the liquid up the straw themselves. Once they can drink from a straw practice using oral muscles by drinking thicken liquids from a straw (you can make your own smoothies using applesauce with juice, or yogurt with milk, or pudding with milk).
Debbie Cahill, Occupational Therapist, Rady Children’s Hospital, San Diego, CA

My 2 year old Brantley (deletion +) loves The First Years Mickey mouse sippy cups with handles and straws. They’re the only cups I can get him to use with straws built into them. He also doesn’t ever chew through those straws. The handles makes it easier to hold on to the cup.
Sarah, j.sorrels09@blueriver.net, angel Brantley, age 2, Del+

For angels who have extreme difficulty in swallowing, I think using a soft sprayer is better than using a straw. Not all angels can independently drink from straws. And if we use a water bottle with a straw, and push often the volume of the water is not at the right amount for them to swallow with ease. Their gulp often brings air into their stomach, making them bloat. A small sprayer on the other hand is very easy to handle.
AS Family Member

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Most children with Angelman syndrome drool to varying degrees. Parents of older children feel the problem improves as their child gets older, but it does continue occasionally. Some children have had surgery to help lessen drooling. However, several parents have reported that their child’s dentist does not recommend surgery since the saliva may actually help prevent cavities as it helps to cleanse the teeth. Scopoderm patches (used to prevent motion sickness) can decrease saliva. Parents report sending wet wipes or baby wash cloths to school or adult programs to help with dryness and germ protection.

Perhaps, a long term option/solution for improving a drooling problem is occupational therapy. Since the problem may be rooted in swallowing difficulties and positioning of the tongue, an occupational therapist could offer tips for you and your child’s teacher.  Request an occupational therapy consultation at your child’s IEP meeting.

Angelman Family Contribution

We discovered that a large pack of bar cloths (like dish rags from Sam’s Club) are great for chewing on, absorbing drool, and then tossing in the washing machine for a fresh start! They get ragged and need to be replaced, but cheap and easy to find! These help calm an angel and are great for “down time”. This has made our lives so much more pleasant!! 
Andrea, mcneilak98@gmail.com, angel Tyler, age 18, Del+ Class 1

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